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    1. Ray, PF; Vekemans, M; Munnich, A
      Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination

      MOLECULAR HUMAN REPRODUCTION
    2. Bonnet, D; Rustin, P; Rotig, A; Le Bidois, J; Munnich, A; Vouhe, P; Kachaner, J; Sidi, D
      Heart transplantation in children with mitochondrial cardiomyopathy

      HEART
    3. Geromel, V; Cao, A; Briane, D; Vassy, J; Rotig, A; Rustin, P; Coudert, R; Rigaut, JP; Munnich, A; Taillandier, E
      Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes

      ANTISENSE & NUCLEIC ACID DRUG DEVELOPMENT
    4. Geromel, V; Kadhom, N; Ceballos-Picot, I; Chretien, D; Munnich, A; Rotig, A; Rustin, P
      Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

      FREE RADICAL RESEARCH
    5. Doffinger, R; Smahi, A; Bessia, C; Geissmann, F; Feinberg, J; Durandy, A; Bodemer, C; Kenwrick, S; Dupuis-Girod, S; Blanche, S; Wood, P; Rabia, SH; Headon, DJ; Overbeek, PA; Le Deist, F; Holland, SM; Belani, K; Kumararatne, DS; Fischer, A; Shapiro, R; Conley, ME; Reimund, E; Kalhoff, H; Abinun, M; Munnich, A; Israel, A; Courtois, G; Casanova, JL
      X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling

      NATURE GENETICS
    6. Gerber, S; Perrault, I; Hanein, S; Barbet, F; Ducroq, D; Ghazi, I; Martin-Coignard, D; Leowski, C; Homfray, T; Dufier, JL; Munnich, A; Kaplan, J; Rozet, JM
      Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Amiel, J; Bougeard, G; Francannet, C; Raclin, V; Munnich, A; Lyonnet, S; Frebourg, T
      TP63 gene mutation in ADULT syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    8. Colleaux, L; Rio, M; Heuertz, S; Moindrault, S; Turleau, C; Ozilou, C; Gosset, P; Raoult, O; Lyonnet, S; Cormier-Daire, V; Amiel, J; Le Merrer, M; Picq, M; de Blois, MC; Prieur, M; Romana, S; Cornelis, F; Vekemans, M; Munnich, A
      A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Aradhya, S; Bardaro, T; Galgoczy, P; Yamagata, T; Esposito, T; Patlan, H; Ciccodicola, A; Munnich, A; Kenwrick, S; Platzer, M; D'Urso, M; Nelson, DL
      Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

      HUMAN MOLECULAR GENETICS
    10. Chantrel-Groussard, K; Geromel, V; Puccio, H; Koenig, M; Munnich, A; Rotig, A; Rustin, P
      Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

      HUMAN MOLECULAR GENETICS
    11. Aradhya, S; Woffendin, H; Jakins, T; Bardaro, T; Esposito, T; Smahi, A; Shaw, C; Levy, M; Munnich, A; D'Urso, M; Lewis, RA; Kenwrick, S; Nelson, DL
      A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

      HUMAN MOLECULAR GENETICS
    12. Geromel, V; Kadhom, N; Cebalos-Picot, I; Ouari, O; Polidori, A; Munnich, A; Rotig, A; Rustin, P
      Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA

      HUMAN MOLECULAR GENETICS
    13. Holder-Espinasse, M; de Blois, MC; Faivre, L; Romana, S; Uteza, Y; Munnich, A; Lyonnet, S; Cormier-Daire, V; Amiel, J
      Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

      CLINICAL DYSMORPHOLOGY
    14. Faivre, L; Cormier-Daire, V; Genevieve, D; Pinto, G; Goulet, O; Munnich, A; Maroteaux, P; Le Merrer, M
      A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia

      CLINICAL DYSMORPHOLOGY
    15. Amiel, J; Faivre, L; Marianowskl, R; Bonnet, D; Couly, G; Manach, Y; Le Merrer, M; Cormier-Daire, V; Munnich, A; Lyonnet, S
      Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases

      CLINICAL DYSMORPHOLOGY
    16. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
      Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene

      NEUROMUSCULAR DISORDERS
    17. Rio, M; Ozilou, C; Cormier-Daire, V; Turleau, C; Prieur, M; Vekemans, M; Chauveau, P; Munnich, A; Colleaux, L
      Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation

      HUMAN GENETICS
    18. Amiel, J; Gigarel, N; Benacki, A; Benit, P; Valnot, I; Parfait, W; Von Kleist-Retzow, JC; Raclin, V; Hadj-Rabia, S; Dumez, Y; Rustin, P; Bonnefont, JP; Munnich, A; Rotig, A
      Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

      PRENATAL DIAGNOSIS
    19. Benit, P; Bonnefont, JP; Mostefa, AK; Francannet, C; Munnich, A; Ray, PF
      Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

      PRENATAL DIAGNOSIS
    20. Gauthier-Villars, M; Landrieu, P; Cormier-Daire, V; Jacquemin, E; Chretien, D; Rotig, A; Rustin, P; Munnich, A; de Lonlay, P
      Respiratory chain deficiency in Alpers syndrome

      NEUROPEDIATRICS
    21. Amiel, J; Attie-Bitach, T; Marianowski, R; Cormier-Daire, V; Abadie, V; Bonnet, D; Gonzales, M; Chemouny, S; Brunelle, F; Munnich, A; Manach, Y; Lyonnet, S
      Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    22. Faivre, L; Nivelon-Chevallier, A; Kottler, ML; Robinet, C; Van Kien, PK; Lorcerie, B; Munnich, A; Maroteaux, P; Cormier-Daire, V; LeMerrer, M
      Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Faivre, L; Vekemans, M; Sanlaville, D; Munnich, A; Cormier-Daire, V
      No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Munnich, A; Rustin, P
      Clinical spectrum and diagnosis of mitochondrial disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Rozet, JM; Perrault, I; Gerber, S; Hanein, S; Barbet, F; Ducroq, D; Souied, E; Munnich, A; Kaplan, J
      Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    26. Wittig, I; Augstein, P; Brown, GK; Fujii, T; Rotig, A; Rustin, P; Munnich, A; Seibel, P; Thorburn, D; Wissinger, B; Tamboom, K; Metspalu, A; Lamantea, E; Zeviani, M; Wehnert, MS
      Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

      JOURNAL OF INHERITED METABOLIC DISEASE
    27. Lerman-Sagie, T; Rustin, P; Lev, D; Yanoov, M; Leshinsky-Silver, E; Sagie, A; Ben-Gal, T; Munnich, A
      Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone

      JOURNAL OF INHERITED METABOLIC DISEASE
    28. Dubern, B; Broue, P; Dubuisson, C; Cormier-Daire, V; Habes, D; Chardot, C; Devictor, D; Munnich, A; Bernard, O
      Orthotopic liver transplantation for mitochondrial respiratory chain disorders: A study of 5 children

      TRANSPLANTATION
    29. Holder-Espinasse, M; Abadie, V; Cormier-Daire, V; Beyler, C; Manach, Y; Munnich, A; Lyonnet, S; Couly, G; Amiel, J
      Pierre Robin sequence: A series of 117 consecutive cases

      JOURNAL OF PEDIATRICS
    30. De Leersnyder, H; de Blois, MC; Claustrat, B; Romana, S; Albrecht, U; von Kleist-Retzow, JC; Delobel, B; Viot, G; Lyonnet, S; Vekemans, M; Munnich, A
      Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

      JOURNAL OF PEDIATRICS
    31. De Leersnyder, H; de Blois, MC; Vekemans, M; Sidi, D; Villain, E; Kindermans, C; Munnich, A
      beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome

      JOURNAL OF MEDICAL GENETICS
    32. Bahuau, M; Pelet, A; Vidaud, D; Lamireau, T; Le Bail, B; Munnich, A; Vidaud, M; Lyonnet, S; Lacombe, D
      GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype

      JOURNAL OF MEDICAL GENETICS
    33. Francannet, C; Cohen-Tanugi, A; Le Merrer, M; Munnich, A; Bonaventure, J; Legeai-Mallet, L
      Genotype-phenotype correlation in hereditary multiple exostoses

      JOURNAL OF MEDICAL GENETICS
    34. Edery, P; Le Deist, F; Briard, ML; Debre, M; Munnich, A; Griscelli, C; Fischer, A; Lyonnet, S
      B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?

      JOURNAL OF MEDICAL GENETICS
    35. Huber, C; Cusin, V; Le Merrer, M; Mathieu, M; Sulmont, V; Dagoneau, N; Munnich, A; Cormier-Daire, V
      SHOX point mutations in dyschondrosteosis

      JOURNAL OF MEDICAL GENETICS
    36. Saugier-Veber, P; Drouot, N; Lefebvre, S; Charbonnier, F; Vial, E; Munnich, A; Frebourg, T
      Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

      JOURNAL OF MEDICAL GENETICS
    37. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    38. Huber, C; Odent, S; Rumeur, S; Padovani, P; Penet, C; Cormier-Daire, V; Munnich, A; Le Merrer, M
      Sulphate transporter gene mutations in apparently isolated club foot

      JOURNAL OF MEDICAL GENETICS
    39. Von Kleist-Retzow, JC; Yao, JB; Taanman, JW; Chantrel, K; Chretien, D; Cormier-Daire, V; Rotig, A; Munnich, A; Rustin, P; Shoubridge, EA
      Mutations in SURF1 are not specifically associated with Leigh syndrome

      JOURNAL OF MEDICAL GENETICS
    40. Faivre, L; Le Merrer, M; Baumann, C; Polak, M; Chatelain, P; Sulmont, V; Cousin, J; Bost, M; Cordier, MP; Zackai, E; Russell, K; Finidori, G; Pouliquen, JC; Munnich, A; Maroteaux, P; Cormier-Daire, V
      Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance

      JOURNAL OF MEDICAL GENETICS
    41. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    42. El Ghouzzi, V; Legeai-Mallet, L; Benoist-Lasselin, C; Lajeunie, E; Renier, D; Munnich, A; Bonaventure, J
      Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

      FEBS LETTERS
    43. Joly, G; Lapierre, JM; Ozilou, C; Gosset, P; Aurias, A; de Blois, MC; Prieur, M; Raoul, O; Colleaux, L; Munnich, A; Romana, SP; Vekemans, M; Turleau, C
      Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype

      CLINICAL GENETICS
    44. Dupre, T; Cuer, M; Barrot, S; Barnier, A; Cormier-Daire, V; Munnich, A; Durand, G; Seta, N
      Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

      CLINICAL CHEMISTRY
    45. Rotig, A; Chantrel-Groussard, K; Munnich, A; Rustin, P
      Expression study of genes involved in iron metabolism in human tissues

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    46. Kenwrick, S; Woffendin, H; Jakins, T; Shuttleworth, SG; Mayer, E; Greenhalgh, L; Whittaker, J; Rugolotto, S; Bardaro, T; Esposito, T; D'Urso, M; Soli, F; Turco, A; Smahi, A; Hamel-Teillac, D; Lyonnet, S; Bonnefont, JP; Munnich, A; Aradhya, S; Kashork, CD; Shaffer, LG; Nelson, DL; Levy, M; Lewis, RA
      Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    47. Amiel, J; Espinosa-Parrilla, Y; Steffann, J; Gosset, P; Pelet, A; Prieur, M; Boute, O; Choiset, A; Lacombe, D; Philip, N; Le Merrer, M; Tanaka, H; Till, M; Touraine, R; Toutain, A; Vekemans, M; Munnich, A; Lyonnet, S
      Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures

      AMERICAN JOURNAL OF HUMAN GENETICS
    48. Benit, P; Chretien, D; Kadhom, N; de Lonlay-Debeney, P; Cormier-Daire, V; Cabral, A; Peudenier, S; Rustin, P; Munnich, A; Rotig, A
      Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    49. Gedeon, AK; Tiller, GE; Le Merrer, M; Heuertz, S; Tranebjaerg, L; Chitayat, D; Robertson, S; Glass, IA; Savarirayan, R; Cole, WG; Rimoin, DL; Kousseff, BG; Ohashi, H; Zabel, B; Munnich, A; Gecz, J; Mulley, JC
      The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

      AMERICAN JOURNAL OF HUMAN GENETICS
    50. Vajo, Z; Munnich, A
      Coenzyme Q deficiency in two unrelated patients - Molecular studies

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    51. Balogh, L; Munnich, A
      Intellectual Talent: Psychometric and social issues

      HIGH ABILITY STUDIES
    52. Zlotogora, J; Bach, G; Munnich, A
      Molecular basis of mendelian disorders among Jews

      MOLECULAR GENETICS AND METABOLISM
    53. Rotig, A; Valnot, I; Mugnier, C; Rustin, P; Munnich, A
      Screening human EST database for identification of candidate genes in respiratory chain deficiency

      MOLECULAR GENETICS AND METABOLISM
    54. Benit, P; Kara-Mostefa, A; Berthelon, M; Sengmany, K; Munnich, A; Bonnefont, JP
      Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

      HUMAN MUTATION
    55. Perrault, I; Rozet, JM; Gerber, S; Ghazi, I; Ducroq, D; Souied, E; Leowski, C; Bonnemaison, M; Dufier, JL; Munnich, A; Kaplan, J
      Spectrum of retGC1 mutations in Leber's congenital amaurosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    56. Hadj-Rabia, S; Salomon, R; Pelet, A; Penet, C; Rotschild, A; de Laet, MH; Chaouachi, B; Hannachi, R; Bakiri, F; Brauner, R; Chaussain, JL; Munnich, A; Lyonnet, S
      Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    57. Amiel, J; Audollent, S; Joly, D; Dureau, P; Salomon, R; Tellier, AL; Auge, J; Bouissou, F; Antignac, C; Gubler, MC; Eccles, MR; Munnich, A; Vekemans, M; Lyonnet, S; Attie-Bitach, T
      PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism

      EUROPEAN JOURNAL OF HUMAN GENETICS
    58. Valnot, I; von Kleist-Retzow, JC; Barrientos, A; Gorbatyuk, M; Taanman, JW; Mehaye, B; Rustin, P; Tzagoloff, A; Munnich, A; Rotig, A
      A mutation in the human heme A : farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency

      HUMAN MOLECULAR GENETICS
    59. El Ghouzzi, V; Legeai-Mallet, L; Aresta, S; Benoist, C; Munnich, A; de Gunzburg, J; Bonaventure, J
      Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

      HUMAN MOLECULAR GENETICS
    60. Gagnadoux, MF; Attie, T; Amiel, J; Gigarel, N; Bonnefont, JP; Munnich, A; Gubler, MC; Antignac, C
      Prenatal diagnosis in autosomal recessive polycystic kidney disease

      ARCHIVES DE PEDIATRIE
    61. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    62. Legeai-Mallet, L; Rossi, A; Benoist-Lasselin, C; Piazza, R; Malet, JF; Delezoide, AL; Munnich, A; Bonaventure, J; Zylberberg, L
      EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses

      JOURNAL OF BONE AND MINERAL RESEARCH
    63. Gerber, S; Rozet, JM; Takezawa, SI; dos Santos, LC; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frezal, J; Ferraz, F; Yu-Umesono, R; Munnich, A; Kaplan, J
      The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

      HUMAN GENETICS
    64. Urban, Z; Michels, VV; Thibodeau, SN; Davis, EC; Bonnefont, JP; Munnich, A; Eyskens, B; Gewillig, M; Devriendt, K; Boyd, CD
      Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

      HUMAN GENETICS
    65. Parfait, B; Chretien, D; Rotig, A; Marsac, C; Munnich, A; Rustin, P
      Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

      HUMAN GENETICS
    66. Faivre, L; Bonnefont, JP; Lyonnet, S; Munnich, A; Vekemans, M
      Improvement of cystic fibrosis using antitumoral drugs: a hypothesis

      MEDICAL HYPOTHESES
    67. Faivre, L; Cormier-Daire, V; Chretien, D; von Kleist-Retzow, JC; Amiel, J; Dommergues, M; Saudubray, JM; Dumez, Y; Rotig, A; Rustin, P; Munnich, A
      Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

      PRENATAL DIAGNOSIS
    68. Ray, PF; Gigarel, N; Bonnefont, JP; Attie, T; Hamamah, S; Frydman, N; Vekemans, M; Frydman, R; Munnich, A
      First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency

      PRENATAL DIAGNOSIS
    69. Brivet, FG; Nion, I; Megarbane, B; Slama, A; Brivet, M; Rustin, P; Munnich, A
      Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction?

      JOURNAL OF HEPATOLOGY
    70. Faivre, L; Prieur, AM; Le Merrer, M; Hayem, F; Penet, C; Woo, P; Hofer, M; Dagoneau, N; Sermet, I; Munnich, A; Cormier-Daire, V
      Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    71. Aradhya, S; Ahobila, P; Lewis, RA; Nelson, DL; Esposito, T; Ciccodicola, A; Bardaro, T; D'Urso, M; Woffendin, H; Kenwrick, S; Smahi, A; Heuertz, S; Munnich, A; Heiss, NS; Poustka, A; Chishti, AH
      Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    72. Tellier, AL; Amiel, J; Delezoide, AL; Audollent, S; Auge, J; Esnault, D; Encha-Razavi, F; Munnich, A; Lyonnet, S; Vekemans, M; Attie-Bitach, T
      Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    73. Faivre, L; Viot, G; Prieur, M; Turleau, C; Gosset, P; Romana, S; Munnich, A; Vekemans, M; Cormier-Daire, V
      Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Aradhya, S; Nelson, DL; Heiss, NS; Poustka, A; Woffendin, H; Kenwrick, S; Esposito, T; Ciccodicola, A; Bardaro, T; D'Urso, M; Smahi, A; Munnich, A; Herman, GE; Lewis, RA
      Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    75. Houdayer, C; Soupre, V; Karcenty, B; Vazquez, MP; Odent, S; Lacombe, D; Le Bouc, Y; Munnich, A; Bahuau, M
      1q32-q41 microdeletion with reference to van der Woude syndrome and alliedclefting entities

      AMERICAN JOURNAL OF MEDICAL GENETICS
    76. Souied, EH; Ducroq, D; Rozet, JM; Gerber, S; Perrault, I; Munnich, A; Coscas, G; Soubrane, G; Kaplan, J
      ABCR gene analysis in familial exudative age-related macular degeneration

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    77. Rotig, A; Appelkvist, EL; Geromel, V; Chretien, D; Kadhom, N; Edery, P; Lebideau, M; Dallner, G; Munnich, A; Ernster, L; Rustin, P
      Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q(10) deficiency

      LANCET
    78. Rustin, P; von Kleist-Retzow, JC; Vajo, Z; Rotig, A; Munnich, A
      For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?

      MECHANISMS OF AGEING AND DEVELOPMENT
    79. de Lonlay-Debeney, P; von Kleist-Retzow, JC; Hertz-Pannier, L; Peudenier, S; Cormier-Daire, V; Berquin, P; Chretien, D; Rotig, A; Saudubray, JM; Baraton, J; Brunelle, F; Rustin, P; Van der Knaap, M; Munnich, A
      Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

      JOURNAL OF PEDIATRICS
    80. Cormier-Daire, V; Chauvet, ML; Lyonnet, S; Briard, ML; Munnich, A; Le Merrer, M
      Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

      JOURNAL OF MEDICAL GENETICS
    81. Sanlaville, D; Aubry, MC; Dumez, Y; Nolen, MC; Amiel, J; Pinson, MP; Lyonnet, S; Munnich, A; Vekemans, M; Morichon-Delvallez, N
      Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

      JOURNAL OF MEDICAL GENETICS
    82. Cormier-Daire, V; Amiel, J; Vuillaumier-Barrot, S; Tan, J; Durand, G; Munnich, A; Le Merrer, M; Seta, N
      Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism

      JOURNAL OF MEDICAL GENETICS
    83. Faivre, L; Le Merrer, M; Megarbane, A; Gilbert, B; Mortier, G; Cusin, V; Munnich, A; Maroteaux, P; Cormier-Daire, V
      Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type

      JOURNAL OF MEDICAL GENETICS
    84. Munnich, A; Maksa, G; Mokken, RJ
      n-variable bisection

      JOURNAL OF MATHEMATICAL PSYCHOLOGY
    85. Raas-Rothschild, A; Cormier-Daire, V; Bao, M; Genin, E; Salomon, R; Brewer, K; Zeigler, M; Mandel, H; Toth, S; Roe, B; Munnich, A; Canfield, WM
      Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

      JOURNAL OF CLINICAL INVESTIGATION
    86. Xavier, ABCF; Saraiva, JM; Le Merrer, M; Dagoneau, N; Huber, C; Penet, C; Munnich, A; Cormier-Daire, V
      Genetic homogeneity of the Camurati-Engelmann disease

      CLINICAL GENETICS
    87. Faivre, L; Radford, I; Viot, G; Edery, P; Munnich, A; Tardieu, M; Vekemans, M
      Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q

      ANNALES DE GENETIQUE
    88. Valnot, I; Osmond, S; Gigarel, N; Mehaye, B; Amiel, J; Cormier-Daire, V; Munnich, A; Bonnefont, JP; Rustin, P; Rotig, A
      Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy

      AMERICAN JOURNAL OF HUMAN GENETICS
    89. Cormier-Daire, V; Dagoneau, N; Nabbout, R; Burglen, L; Penet, C; Soufflet, C; Desguerre, I; Munnich, A; Dulac, O
      A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31

      AMERICAN JOURNAL OF HUMAN GENETICS
    90. Touraine, RL; Attie-Bitach, T; Manceau, E; Korsch, E; Sarda, P; Pingault, V; Encha-Razavi, F; Pelet, A; Auge, J; Nivelon-Chevallier, A; Holschneider, AM; Munnes, M; Doerfler, W; Goossens, M; Munnich, A; Vekemans, M; Lyonnet, S
      Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

      AMERICAN JOURNAL OF HUMAN GENETICS
    91. Munnich, A
      Genetic testing: A prediction or a malediction?

      BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE
    92. Perrault, I; Rozet, JM; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, JL; Munnich, A; Kaplan, J
      Leber congenital amaurosis

      MOLECULAR GENETICS AND METABOLISM
    93. Rozet, JM; Gerber, S; Souied, E; Ducroq, D; Perrault, I; Ghazi, I; Soubrane, G; Coscas, G; Dufier, JL; Munnich, A; Kaplan, J
      The ABCR gene: A major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

      MOLECULAR GENETICS AND METABOLISM
    94. Benit, P; Rey, F; Blandin-Savoja, F; Munnich, A; Abadie, V; Rey, J
      The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency

      MOLECULAR GENETICS AND METABOLISM
    95. Roux-Rouquie, M; Chauvet, ML; Munnich, A; Frezal, J
      Human genes involved in chromatin remodeling in transcription initiation, and associated diseases: An overview using the GENATLAS database

      MOLECULAR GENETICS AND METABOLISM
    96. Benit, P; Kara-Mostefa, A; Hadj-Rabia, S; Munnich, A; Bonnefont, JP
      Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

      HUMAN MUTATION
    97. El Ghouzzi, V; Lajeunie, E; Le Merrer, M; Cormier-Daire, V; Renier, D; Munnich, A; Bonaventure, J
      Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    98. Odent, S; Attie-Bitach, T; Blayau, M; Mathieu, M; Auge, J; Delezoide, AL; Le Gall, JY; Le Marec, B; Munnich, A; David, V; Vekemans, M
      Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly

      HUMAN MOLECULAR GENETICS
    99. Bertrandy, S; Burlet, P; Clermont, O; Huber, C; Fondrat, C; Thierry-Mieg, D; Munnich, A; Lefebvre, S
      The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution

      HUMAN MOLECULAR GENETICS
    100. Odent, S; Attie-Bitach, T; Blayau, M; Mathieu, M; Auge, J; Delezoide, AL; Le Gall, JY; Le Marec, B; Munnich, A; David, V; Vekemans, M
      Expression of the Sonic hedgehog (SHH) gene during early human developmentand phenotypic expression of new mutations causing holoprosencephaly (vol 8, pg 1683, 1999)

      HUMAN MOLECULAR GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/02/20 alle ore 14:23:42